Article
Neutrophil elastase in cyclic and severe congenital neutropenia.
Blood - 1 Mar 2007
Horwitz Marshall S, Duan Zhijun, Korkmaz Brice, Lee Hu-Hui, Mealiffe Matthew E, Salipante Stephen J
Abstract excerpt
Mutations in ELA2 encoding the neutrophil granule protease, neutrophil elastase (NE), are the major cause of the 2 main forms of hereditary neutropenia, cyclic neutropenia and severe congenital neutropenia (SCN). Genetic evaluation of other forms of neutropenia in humans and model organisms has helped to illuminate the role of NE. A canine form of cyclic neutropenia corresponds to human Hermansky-Pudlak syndrome...
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